Canonical Allele Identifier: CA1050528428
Gene: POU1F1 HGNC NCBI

Linked Data

dbSNP Id: rs1706521238
gnomAD v3: 3-87261928-T-A
gnomAD v4: 3-87261928-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.87261928T>A , CM000665.2:g.87261928T>A GRCh38
NC_000003.11:g.87311078T>A , CM000665.1:g.87311078T>A GRCh37
NC_000003.10:g.87393768T>A NCBI36
NG_008225.2:g.19660A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000344265.8:c.682+143A>T ENSP00000342931.3:n.682+143A>T
ENST00000350375.7:c.604+143A>T MANE Select ENSP00000263781.2:n.604+143A>T
ENST00000344265.7:c.682+143A>T ENSP00000342931.3:n.682+143A>T
ENST00000350375.6:c.604+143A>T ENSP00000263781.2:n.604+143A>T
ENST00000560656.1:c.440-1824A>T ENSP00000452610.1:n.440-1824A>T
ENST00000561167.5:c.379+143A>T ENSP00000454072.1:n.379+143A>T
NM_000306.3:c.604+143A>T NP_000297.1:n.604+143A>T
NM_001122757.2:c.682+143A>T NP_001116229.1:n.682+143A>T
NM_000306.4:c.604+143A>T MANE Select NP_000297.1:n.604+143A>T
NM_001122757.3:c.682+143A>T NP_001116229.1:n.682+143A>T